Canonical Allele Identifier: PA2826216156
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251483
ClinVar RCV Id: RCV000237583
ClinVar Variation Id: 251486
ClinVar RCV Id: RCV000237595

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys157Ser
CA10585157
NM_001195803.2:c.469T>A
CA10585160
NM_001195803.2:c.470G>C